Detalhe da pesquisa
1.
Urinary gonadotropin assay on 24-h collections as a tool to detect early central puberty onset in girls: determination of predictive thresholds.
Hum Reprod
; 39(5): 1003-1012, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38514451
2.
Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.
Rev Endocr Metab Disord
; 23(5): 1063-1078, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35996042
3.
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Clin Endocrinol (Oxf)
; 94(2): 277-289, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098107
4.
Effects of advanced carbohydrate counting on glucose control and quality of life in children with type 1 diabetes.
Pediatr Diabetes
; 21(7): 1240-1248, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32644264
5.
The protein kinase PERK/EIF2AK3 regulates proinsulin processing not via protein synthesis but by controlling endoplasmic reticulum chaperones.
J Biol Chem
; 293(14): 5134-5149, 2018 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29444822
6.
A systematic review of non-genetic predictors and genetic factors of glycated haemoglobin in type 1 diabetes one year after diagnosis.
Diabetes Metab Res Rev
; 34(8): e3051, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30063815
7.
Risk of autoimmune diseases and human papilloma virus (HPV) vaccines: Six years of case-referent surveillance.
J Autoimmun
; 79: 84-90, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190705
8.
Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases.
Pediatr Diabetes
; 16(7): 510-20, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25131821
9.
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.
Nat Genet
; 38(6): 682-7, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16715098
10.
[WHAT IS THE RISK FOR CHILDHOOD OBESITY?]. / Que risque l'enfant obèse?
Rev Prat
; 65(10): 1275-7, 2015 Dec.
Artigo
em Francês
| MEDLINE | ID: mdl-26979020
11.
Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.
Am J Hum Genet
; 88(6): 718-728, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21596366
12.
Hypoventilation in patients with Prader-Willi syndrome across the pediatric age.
Pediatr Pulmonol
; 59(4): 938-948, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38179881
13.
Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
Eur J Endocrinol
; 190(2): 151-164, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38245004
14.
Growth Hormone Dose Modulation and Final Height in Short Children Born Small for Gestational Age: French Real-Life Data.
Horm Res Paediatr
; 96(5): 495-508, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37040726
15.
Objective burden and emotional distress in parents of children with type 1 diabetes.
Horm Res Paediatr
; 2023 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37442105
16.
A Novel Leptin Receptor LEPR Variant in a Toddler With Early-Onset Fatal Obesity.
Pediatrics
; 152(1)2023 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37381830
17.
Changes in the clinical management of 5α-reductase type 2 and 17ß-hydroxysteroid dehydrogenase type 3 deficiencies in France.
Endocr Connect
; 12(3)2023 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36606580
18.
Fetal ovarian cysts: an early manifestation of McCune-Albright syndrome?
Prenat Diagn
; 32(9): 859-63, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22692721
19.
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.
J Med Genet
; 48(12): 825-30, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22051515
20.
Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 (DAX1) Pathogenic Variants.
Front Endocrinol (Lausanne)
; 13: 855082, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35432221